Chin tremor or geniospasm is an involuntary, rhythmic, autosomal dominant hereditary movement disorder, triggered by stress or emotional situations. Registered for the first time in 1894, in Italy.
We report a 4-year-old girl with mental tremor from one year of age, with no previous inheritance, with a successful response to the use of Botulinum Toxin.
Introduction. Propionic acidemia (AP) is an organic acidemia (AO) with clinical presentation of neonatal onset or late. Caused by deficiency of the enzyme propionil-CoA carboxilasa that causes accumulation of propionic acid and metabolites related to propionyl-CoA in tissues. Hyperglycinemia is characteristic, but hyperlysinemia may occur. This work describes a clinical case of AP of neonatal onset with fatal outcome and striking alteration of amino acids.
Clinical case. Female newborn (RN) admitted in the neonatal unit on the third day of life due to hypoactivity, vomiting and lethargy. Subsequent respiratory distress and cardiac arrest occurred, dying before a biochemical diagnosis was established. Initial paraclinics evidenced metabolic acidosis, leukopenia, hypoglycemia, later documented hyperglycinemia, hypercystinemia and severe hyperlysinemia. The organic acid chromatography in urine identified 3-hydroxy-propionic acid, methyl citrate and propionylglycine among other toxic metabolites, confirming the diagnosis.
Conclusions. AP is an inborn error of autosomal recessive metabolism of low incidence. The presence of severe metabolic acidosis, pancytopenia, hypoglycemia and family history should alert about this diagnosis. Additionally, although the definitive biochemical diagnosis is organic acids in urine, the presence of hyperammonemia, hyperglycinemia and hyperlysinemia can be highly suggestive of this disorder.
A 66-year-old woman with history of cirrhosis of unknown etiology was evaluated one month after transient loss of consciousness followed by dystonic posturing, abnormal speech and shuffling gate.
She had been complaining of chronic fatigue, anorexia and weight loos for the past six months, and referred two episodes of non-traumatic nose bleeding in the past two weeks.
Background: The Ecuadorian community is the third largest foreign community in Spain. However, little is known about their cardiovascular (CV) health status and whether the effects of migration have caused a detriment in that state. Methods: With the aim of knowing the CV health in an Ecuadorian population of migrants in Madrid, a non-randomized, cross-sectional study was carried out, which included people of Ecuadorian nationality, older than 25 years, living in Madrid for a year or more. Surveys were conducted through the use of previously validated questionnaires, to determine the health status of the population, as well as the degree of neuro-physiological distress. Results: We included 165 participants (68.5% women), with an average age of 49 years. Of these, 86.1% presented poor cardiovascular health and 13.9% intermediate, without significant differences according to sex. There were no individuals that met the 7 variables consistent with and ideal CV status. Women had higher scores on the DASS-21 questionnaire compared to men (p <0.05). Conclusion: In the Ecuadorian migrant population living in Madrid, more than 85% had poor CV health, and none had an ideal CV health. Most prevalent risk factors in this population were poor physical activity, overweight/obesity and poor dietary habits. More studies are required to identify the real situation of CV risk in the Ecuadorian migrant population. Probably, in the medium-long term, it will be necessary to implement health policies especially addressed to migrants.
Background: The earlobe crease (ELC) has been linked to coronary artery disease and other vascular conditions, but there is no information on its association with intracranial atherosclerosis. Objective: This study aimed to assess the association between high calcium content in the carotid siphons (as a surrogate of intracranial atherosclerosis) and ELC in communitydwelling adults living in rural Ecuador. Methods: Atahualpa residents aged ≥40 years underwent head CT to estimate calcium content in the carotid siphons, and visual inspection of both earlobes to evaluate the presence of ELC. The association between both variables was assessed by logistic regression models, after adjusting for demographics and cardiovascular risk factors. Results: Of 651 enrolled individuals (mean age: 59.7±12.8 years; 54% women), 225 (35%) had ELC, and 143 (22%) had high calcium content in the carotid siphons. Univariate logistic regression showed a borderline (non-significant) association between high calcium content in the carotid siphons and ELC presence (OR: 1.44; 95% C.I.: 0.99 – 2.12; p=0.057), which disappeared when age (OR: 0.98; 95% C.I.: 0.65 – 1.48; p=0.923) and other covariables (OR: 0.97; 95% C.I.: 0.63 – 1.49; p=0.890) were added to the model. Conclusion: This population study shows no association between high calcium content in the carotid siphons and ELC presence.
Background: Cognitive screening tools are useful in the clinical and research setting. MiniMental (MMSE) is one of the most used instruments in Colombia, the objective of this work is to determine its performance against the new criteria for the diagnosis of cognitive disorder (DSM-5). Materials and methods: Diagnostic test study, assembled in a Colombian cohort, we evaluated a consecutive sample of 200 participants older than 50 years (66.5,+/-8.86) that represented the whole spectrum of the condition of interest, the index test (MMSE) was compared with the clinical reference standard (consensus diagnosis and classification by criteria DSM-5). Results: For mild cognitive impairment (MCI), the diagnostic performance of MMSE was: Sensitivity 45.3% (95% CI 33.7 to 57.4), specificity 96.9% (95% CI 91.4 to 99.0) and 76.9% accuracy (95% CI 69.5 to 82.4) at a cut-off point of 26 and, for major cognitive disorder (MCD) was: Sensitivity 76.32% (95% CI 60.8-87.0) and specificity 97.53% (95% CI 93.8-99.0) at the cut-off point of 24. Conclusions: MMSE is a valid alternative for the diagnosis of MCD, however it has limited validity for the detection of MCI, so new tools for the purpose of screening of MCI should be considered.
Introduction: According to World Health Organization (WHO) 2017 report there are 50 millions of people with dementia worldwide and 60% to 70% of cases belong to Alzheimer’s Disease. The WHO admit that dementia is a public health priority. Aims: Descriptive analysis of patients Alzheimer’s Disease in Guayaquil, Ecuador, focused hospitalization and mortality predictors. Methods: Cross-sectional study. Multivariate and univariate logistic regression analysis to indicate predictors of hospitalization by pneumonia and mortality. Results: 42.57% of the sample was men and the average age was 80.02 years. In a multivariate logistic regression analysis, the most associated comorbidity to increase the risk of pneumonia were Diabetes Mellitus combined with Arterial Hypertension (OR 5.62, 95% CI (1.17 – 26.96) p 0.031), statistically significant. Antipsychotic medication increase the pneumonia risk with a statistically significant meaning (OR 3.03, 95% CI (1.23 – 7.44) p 0.016). Conclusion: Future studies should focus on report the effect of medications and comorbidities on admissions in patients with Alzheimer. Guidelines to focus prevent common causes of hospitalization in these patients should be adapted.
The pre-frontal cortex is the basis of the most complex mental abilities of human development. In its evaluation process, the EFECO scale provides an important contribution to assess its status. In previous investigations this scale has been studied with its configuration of 67 items, narrative focused on the deficit and evaluation of 8 executive functions. This research presents a new version of the scale, centered on its narrative in executive ability, proposed items to assess executive verification function and a summarized version of 42 items. The study included 118 healthy adults between 18 and 25 years of age (Mage = 20.72, SD = 1.65). In the results it was found that the EFECO II-VC scale (modified and complete version) obtained as internal consistency α = .96 and its sub-scales internal consistency between α = .64 and .81. The EFECO II-VR scale (modified and summarized version) obtained α = .94 and its sub-scales between α = .68 and .79. The internal consistency of the factors in which the executive functions are included were adequate: the supervisory system of cognition II-VC α = .93 and II-VR α = .70, while the supervisor system of behavior II- VC α = .93 and II-VR α = .81. The correlations between the executive functions assessed with both scales were between medium and large r = .36 and .94. The work is closed discussing the clinical and scientific contribution of the modification of the EFECO scale.
Introduction. The arrival of patients with ischemic stroke to the hospital in the period of the therapeutic window, depends to a great extent on the identification of their clinical signs and the recognition that it is a medical emergency. Methods. A prospective, longitudinal, cross-sectional study was carried out, based on a structured interview with closed questions. The aim was to assess the degree of the population’s knowledge about the ischemic stroke. Results. A total of 135 subjects without a diagnosis of stroke were interviewed, randomly selected from the relatives of patients. The average age was 42.6 years, women predominated (92 / 68.1%), with an average level of education. 95.5% (129 subjects) admitted having little knowledge about stroke. Only 11.1% correctly indicated the clinical manifestations; The most recognized symptom was damping (59.3%) followed by speech disorders. 80.9% (109 respondents) identify stroke as a preventable condition. Less than half of the participants adequately named the risk factors (66 / 48.9%). 88.2% take a correct attitude to the symptoms. Conclusions. In the group of people interviewed there is a perception of risk regarding stroke, but knowledge about the manifestations and vascular risk factors is poor. It is necessary to carry out information campaigns aimed to improve knowledge of t he disease.
Introduction. Executive functions (EF) are a set of mental skills that allow to regulate the behavior, metacognition and emotions; executing a conscious control of the own thought. The development is progressive along the vital cycle of the human being, therefore, they meet involved in the social, emotional and academic development of the persons. There exist studies that affirm that the academic performance meets influenced by the level of development of the EF (inhibitory control, working memory, cognitive flexibility, monitoring and self-regulation) which relation has been progressively studied in diverse ages ranges and educational levels. Method. This article, has the aim to define and explain principal EF that they influence in the academic performance in university students. For it, there was realized a method of systematic review that allows to compile the investigations that affirm the above mentioned relation. Results and Conclusions. The scopes of the studies affirm that the principal EF involved in the academic performance of the university students is the working memory and in minor measure, the skills of planning, inhibitory control and cognitive flexibility. Finally, there are discussed the limitations and projections that this study allows to approach; considering the EF to be a key factor for the academic university success and the implementation of instances of pedagogic supports that should favor the professional development of the students.
Cysticidal drugs have been used for more than three decades. However, its efficacy has been questioned on the assumption that cysts would die spontaneously, and thus, inflammatory reactions related to therapy are unnecessary. In addition, isolated reports have also questioned whether neurocysticercosis (NCC) causes epilepsy. A large body of evidence is currently available and little – if any – doubt exists on NCC as a cause of unprovoked seizures. NCC is consistently associated with seizures when suitable groups are compared, and in a sizable subset of patients, the semiology of seizures correlates with the anatomical location of parasites. Cyst degeneration and the subsequent inflammatory reaction related to therapy may transiently increase seizure expression, and this can be anticipated and managed with the additional use of corticosteroids. Several controlled trial support the concept that cysticidal drug efficacy, safety, and the impact of cyst destruction in decreasing seizures largely overcome the potential risks of therapy, and have provided evidence of the role of NCC as a cause of r ecurrent unprovoked seizures (epilepsy).
Tuberous sclerosis complex (TSC) is an uncommon neurocutaneous disease often underdiagnosed in remote areas where specialists in neurology are usually not available. A 22 month-old girl was taken to a clinic in a rural village presenting refractory epilepsy of undetermined cause that started at 18 months of age with upward eye deviation episodes and epileptic extensor spasms. She also presented perinasal angiofibromas and hypomelanotic skin lesions in trunk. The interictal encephalogram done in the community showed multifocal and generalized epileptic activity. The girl had been taken to the city for a brain magnetic resonance, which revealed multifocal subcortical hyperintensities and subependymal nodules. By teleconsult between community doctors and national and international specialists, atypical TSC with late onset epileptic spasms was diagnosed. The recommended treatment resulted in controlled seizures, and a follow-up plan was established. This case illustrates that telemedicine units in rural areas are a technological option to provi de access to specialized epilepsy care.
Dementia with Lewy bodies is a neurodegenerative disease of unknown etiology, it is the second cause of dementia of the sixth decade of life; Its diagnosis is a challenge, because certain signs and symptoms that it presents are typical of Parkinson’s Disease and Alzheimer’s Disease. The following case report is one of the few documented patients with Dementia with Lewy bodies in Ecuador. We report this in order to state the diagnostic difficulty that this pathology generates and describe the main characteristics that differentiate it from other dementia syndromes, highlighted in the recently updated criteria by the Consortium of Dementia with Lewy bodies. A meticulous neurological examination and neuropsychological assessment were essential in the study and prognosis of the patient. Dementia with Lewy bodies requires a thorough diagnosis, due to the challenge that originates its early recognition; the criteria described accelerated their recognition due the update of the recommendations on the clinical diagnosis of Dementia with Lewy bodies.
Kinsbourne syndrome, also known as “Opsoclonus-myoclonus syndrome” or “Dancing eyes syndrome” is a rare condition characterized by rapid, irregular, multi-directional eye movements (opsoclonus), myoclonic movements in the trunk, face and/or limbs and ataxia. It occurs in children aged between 6 and 36 months. Its etiology may be paraneoplasic (neuroblastoma), nonparaneoplasic (infectious processes) or idiopathic. Regardless of its etiology, immunosuppressive drugs have been used in order to reduce the formation of antibodies possibly involved in the pathophysiology. We report the case of a four years-old boy with this syndrome secondary to an infectious urinary illness. He had ataxia, opsoclonus, upper limbs myoclonus, irritability and altered sleep pattern. Neuroblastoma was ruled out. Initial management was done with methylprednisolone pulses, followed by oral prednisolone and intravenous gammaglobulin. He started with rituximab with a good response. He had progressive clinical improvement, and is currently asymptomatic with no sequelae. In these patients a paraneoplasic syndrome should always be ruled out.
Radiation-induced leukoencephalopathy presents clinically as a cognitive disorder chronologically associated with radiotherapy. The characteristic findings are: acute reversible edema, demyelination and vascular necrosis associated with thrombosis. The diagnostic test of choice is magnetic resonance imaging (MRI) and the treatment is with corticosteroids. We present a case of a patient with brain metastases who developed a post-radiotherapy leukoencephalopathy.
Objective: To describe and contrast the symptomatic variability of cases with sporadic or non-sporadic Alzheimer’s dementia (DTA + E) with the data obtained from the cases with early familial Alzheimer’s dementia caused by the E280A of the Neurobank of the Neurosciences Group of Antioquia (GNA). Materials and Method: This study was of exploratory – descriptive and correlacional type, 83 donors’ cases were taken with DTA stored in the Neurobank. These cases were divided in two groups, i) a group defined genetically like E280A; and ii) another not carrying group of the mutation (DTA+E); the scoreboards and / or characteristics neuropsychiatric, neuropsychological, neurological and neuropathological of both groups were confirmed. Results: The symptom that showed higher differences between both groups was iteration iteration (DTAF E280A with 1.2% and 18.4% for the DTA+E group). Other symptoms as depression or the time of appearance of progressive loss of memory did not show big differences among groups (DTAF E2080A=55.9%; DTA+E =53.1%) and (DTAF E2080A=55.9%; DTA+E =53.1%). The language disorders that were observed with major frequency among the donors were the loss of the language, mutism, anomia and aphasia. The sign with higher frequency in both groups was lost of sphincter control. The atrophy was with more intensity in the temporary lobes of the brains of the donors with DTA+E (83.3%). The weight of the brain and of the posterior fosse content, they have a moderate, directly proportional and highly significant relation from the statistical point of view. Conclusions: DTA +E has neuropathological differences with DTAF E280A that can be associated with the physiology hereditary from of DTAF E280A.
Introduction. Carotid cavernous fistulas are infrequent vascular malformations that generate a pathological arteriovenous shunt, which compromises ocular function. The definitive diagnosis is established by cerebral arteriography. However, its invasive nature limits its use in follow-up. The aim of this work is to illustrate the value of the study with transcranial doppler ultrasound for the diagnosis of cavernous carotid fistulas and to describe the flow parameters that could be modified. Patients. A retrospective review of the clinical histories of the patients treated with a diagnosis of cavernous carotid fistula was carried out in the stroke unit of the Hermanos Ameijeiras Hospital in Havana, between January 2005 and May 2014. Demographic and disease variables were collected, as well as the results of imaging and ultrasound studies. Results. We describe the clinical and imaging characteristics of three patients in whom carotid cavernous fistula was confirmed. In the two patients with direct communications, an increase of the mean flow velocity in the ophthalmic vein, arterialized, with decrease in pulsatility were registered; in addition to an increase in the diastolic peak velocity in the internal carotid artery ipsilateral to the fistula. In the patient with the indirect fistula the changes were less marked. Conclusion. The ultrasound study was useful in the diagnosis of carotid cavernous fistulas, showing differences in the flow parameters that can be used to classify the fistulas.
Introduction. Status Epilepticus (SE) is a frequent neurologic emergency. Little research has been done in South America to evaluate the prognostic variables of mortality and disability in patients with SE. Objective. To determine the variables associated to an unfavorable outcome at hospital discharge in the patients who were treated for SE. Methods. A retrospective study was performed during the period of January 2016–June 2017. A total of 26 patients were diagnosed of SE and its different variants. The effects of clinical, radiological, and electroencephalographic features on hospital outcome according Rankin scale were evaluated Results. Twelve (46.2%) patients had an unfavorable outcome at hospital discharge, while the mortality rate reached 23.1%. There was a predominance of males with a 76.9% of all the patients. The independent variables associated with an unfavorable outcome were the number of comorbidities (p=0.01, OR: 4.27-95%CI1.33-13.6), structural lesions on the Magnetic Resonance Image (MRI) (p=0.04, OR: 3.92-95%CI1.05-14.61) and refractory SE (p=0.01, OR: 12.52-95%CI1.85-84.44). There was also a trend for age (p=0.07 OR: 1.03-95%CI0.99-1.07). While an initial good clinical condition, according to the Glasgow Scale represent a protective factor (p=0.00 OR: 0.49-IC95% 0.29-0.84) of an unfavorable outcome. Conclusions. The unfavorable outcome was marginally associated with patient age, clinical status at the onset of SE according to the Glasgow Coma Scale, as well as brain lesions on brain MRI. Refractory SE and more than 4 comorbidities are predictors of an unfavorable outcome at hospital discharge.
Epilepsy is one of the more frequent neurologic disorders, with an incidence of 50/100,000/year and prevalence between 0.5 and 2% worldwide. A third of these patients suffer focal epilepsy due to epileptogenic lesions evident by neuroimaging new techniques. Epilepsy surgery is the only treatment that can cure refractory epilepsy. Its goal is to remove the epileptogenic lesion with preservation of eloquent areas, and in this case both surgical experience and neuroimaging technology play a pivotal role. Objective. To demonstrate utility of neuronavigation in presurgical planning and surgery of refractory epilepsy. Method. Descriptive, cross sectional and analytic study of 47 performed surgeries (12 resective, 12 palliative and 3 diagnostic) in patients with refractory epilepsy with an average age of 9.93 years (SD 4.1). In 27 patients (57.44%) neuronavigation was used. In patients operated with assistance of neuronavigation, surgical time diminished in 47.17 minutes (p=0.022), hemorrhage in 111.41 ml (p=0.011) and days of hospitalization in 6.68 days (p=0.005) comparing with group without neuronavigation. Complications in the group with neuronavigation were 29.63% compared with 65% in the group without it. (P=0,034). Conclusions. In this study, using neuronavigation in planning and performing surgery in reducing the amount of blood loss, surgical time, days of hospitalization and post surgical complications.
In the last five years, there have been several cases of zika and chikungunya infections in the world, simultaneous with the increase in cases of Guillain-Barre syndrome, which have shown a potential causal relationship that is still not entirely clear. Objective: To describe the main clinical manifestations of Guillain-Barre syndrome in relation to chikungunya and zika, according to scientific literature. Methods: The databases PubMed and ScienceDirect were used to perform the search for the period 2014-2016 using with the keywords: zika, chikungunya and Guillain-Barre Syndrome; articles in English and Spanish were included. Results: 35 articles were found, one for the year 2014, two for 2015 and 32 for 2016. Conclusion: Variations in clinical characteristics and the increased incidence of GBS in the presence of zika and chikungunya, highlight the need to monitor these infections and perform analytic studies to determine the association between arboviruses and different neurological alterations.
Patients receiving anticoagulation and those with traumatic cranial lesions are at increased risk of hemorrhagic phenomena at the intracranial level. Mortality in this class of patients is high, which makes them a population that deserves a careful approach and follow-up. Usually the patients we observe in emergency services are mild cranial traumas but the evolution of the anticoagulated patient in some cases is unpredictable. Currently, several studies have been published in relation to anticoagulation and traumatic brain injury. We present a concise review of the literature focused on neurologists and neurosurgeons.
The neuropsychological battery UDS (of the English Uniform Data Set), is used worldwide to homogenize the investigations of Alzheimer’s disease. Objective: Quantitatively synthesize the results of the subtests of the UDS for the cognitive profile of controls, patients with mild cognitive impairment and dementia of the Alzheimer type. Method: An advanced and manual systematic search was performed in databases (PubMed / MedLine, Web of Science, Scopus, Lilacs, Science Direct, Cochrane Library, PsycINFO) evaluating the diagnostic performance of the UDS. Results: The systematic review showed a narrative synthesis where 8 articles were included that included 9260 subjects, with an age range between 60 and 90 years. The quantitative synthesis used 13 articles with a total sample of 2,884 participants, with an average age of 74 years and an average of 15 years of education. Conclusion: We described a synthesis of the medial scores, which generate cut-off points for Alzheimer’s type dementia (DTA), mild cognitive impairment (MCI) and cognitively normal controls, evidencing an adequate diagnostic precession.
Introduction. Moral thinking is a mental skill that allows respecting implicit and explicit social norms. One factor that can alter its functioning is acquired brain damage, as is the case of subjects who have suffered a brain injury at the frontal lobe. Aim. To analyze the relationship between the process of moral thinking and brain functioning, through the description of cases that have suffered acquired brain damage, with the purpose of explaining the situation that an individual lives after presenting brain damage and becoming unable to respect social norms. Development. The clinic of patients who have suffered brain damage at the frontal level, such as Phineas Gage, NN and Elliot, is shown, in which it was observed that its state after the traumatic event was characterized by going back to previous stages of thinking moral, unlike a subject who may present brain damage in later structures. Conclusions. We discuss the analysis performed on the role of the frontal lobe in the process of respecting social norms that allow human interaction and how it can be affected by brain damage.
Posterior reversible encephalopathy syndrome (PRES) is a rare neurological disorder characterized by headaches, visual disturbances, altered level of consciousness, seizures, and a variety of neurological deficits that are caused by a severe increase in blood pressure. Hypertensive disorders of pregnancy, mainly preeclampsia and eclampsia, continue to be one of the main causes of morbidity and mortality during pregnancy worldwide, causing neurological complications ranging from singular seizures to the development of status epilepticus and the advent of potentially fatal cerebrovascular events. We describe the presentation of posterior reversible encephalopathy syndrome in a pregnant adolescent who developed a hypertensive disorder of pregnancy.
